摘要
目的探讨补体因子H(CFH)及B因子(CBF)的基因变异与年龄相关性黄斑变性(AMD)的相关性。方法经门诊采集正常对照及AMD患者的外周血,提取DNA,PCR扩增所需片断后进行了补体因子H(CFH)与B因子(CBF)单核苷酸多态性(SNPs)检测,分析所得到的基因变异结果与AMD的相关性。结果①补体因子H Y402H在207位对照组及125位病例组中等位基因C的频率分别为39.6%及65.2%,OR=0.350,95%CI=0.254-0.483。②B因子R32Q在对照组中及病例组等位基因A的频率分别为10.8%和4.2%,OR=2.726,95%CI=1.256-5.918。结论CFH Y402H增加了患AMD的风险,CBF R32Q在AMD的发病中可能起到保护作用。
Objective Complement factor H （CFH） is the contributing gene implicated in some cases of Age-related macular degeneration（AMD）, a common CFH variant （Y402H） has been proposed to act as a genetic susceptibility factor for AMD. We wished to investigate the frequency of the CFH （Y402H） variant in our cohort of patients with AMD. CFB （R32Q,L9H） that is associated with AMD were also investigated. Methods DNA from 207 well characterised normal individuals comprised the control group. 125 patients with AMD were studied. SNaPshot and enzyme digest based assay were developed for rapid PCR based genotyping of the variants. Results The Y402H variant has been identified in 164/414 normal ＂individual studied （39.6%） consistent with other populations. Y402H has been identified in 163/250 cases （65.2%） of AMD in our population, （OR = 0. 350,95 % CI = 0. 254- 0.483）, The risk allele frequency of CFB R32Q is 22/204（ 10.8% ） in controls and 9/212 （4.2%） in cases. Conclusion Variants in the complement pathway-associated genes CFH and CFB are significantly associated with AMD.
出处
《中国实验诊断学》
2008年第3期340-342,共3页
Chinese Journal of Laboratory Diagnosis
